Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 19 | 11083273 | downstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 19 | 19394278 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||
|
11 | 0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.800 | 1.000 | 2 | 2012 | 2018 | |||
|
2 | 18 | 49631816 | intergenic variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
2 | 19 | 44636865 | intron variant | A/G;T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 5 | 75348856 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 118078265 | intergenic variant | G/A | snv | 5.2E-02 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||||
|
4 | 19 | 19612406 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
8 | 0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 101011463 | missense variant | C/T | snv | 9.8E-02 | 9.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
1 | 2 | 21070463 | regulatory region variant | -/GA;GACTCAAAGTACACATTTCCTAGA | delins | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 0.925 | 0.080 | 9 | 22088095 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 12 | 109527707 | intron variant | C/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 23439740 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 15 | 58431280 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
5 | 15 | 58431227 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 55035303 | upstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1 | 62606594 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |